第六外显子被替换为带有FRT切割位点的neo cassette,以及一个修改过的第六外显子,其中的A到G的转换导致第243位的氨基酸由Alanine替换为Threonine(T243A)。这个突变是为了阻止WNK同源物的激活。通过Flp介导的重组移除了neo cassette。(来源:J:191566)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEvBrd
Targeted
Insertion, Single point
--
1
--
8

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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